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Results: 1 to 20 of 70

Tests names and labsConditionsGenes and analytesMethods

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Comprehensive mitochondrial disorders panel

Centogene AG - the Rare Disease Company
Germany
1181
  • C Sequence analysis of the entire coding region

Arginine: Glycine amidinotransferase deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GATM - Cerebral creatine deficiency syndrome 3

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

WES mitochondrial disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1369
  • E Sequence analysis of select exons

CHILDHOOD EPILEPSY

Amplexa Genetics Amplexa Genetics A/S
Denmark
1125
  • S Mutation scanning of the entire coding region

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

Amplexa Genetics Amplexa Genetics A/S
Denmark
1569
  • S Mutation scanning of the entire coding region

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection

PreventionGenetics
United States
199222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neurodevelopment-Expanded

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IDNext

Ambry Genetics
United States
222140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiRapid reflex EpilepsyNext

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Neuro

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders Sequencing Panel with CNV Detection

PreventionGenetics
United States
102108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Rapid Epilepsy Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1916
  • D Deletion/duplication analysis

CHOP Epilepsy Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
9184
  • C Sequence analysis of the entire coding region

Rapid Epilepsy Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 70

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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